Works matching DE "GENETIC carriers"

Results: 1955

Cancer Risk Management Decision Making for BRCA+ Women.

Published in:

2015

By:

Leonarczyk, Terri Jabaley;
Mawn, Barbara E.

Publication type:

Journal Article

Reduced memory in fat mass and obesity-associated allele carriers among older adults with cardiovascular disease.

Published in:

Psychogeriatrics, 2013, v. 13, n. 1, p. 35, doi. 10.1111/j.1479-8301.2012.00424.x

By:

ALOSCO, Michael L.;
BENITEZ, Andreana;
GUNSTAD, John;
SPITZNAGEL, Mary Beth;
MCCAFFERY, Jeanne M.;
MCGEARY, John E.;
POPPAS, Athena;
PAUL, Robert H.;
SWEET, Lawrence H.;
COHEN, Ronald A.

Publication type:

Article

Prenatal and preconception population carrier screening for cystic fibrosis in Australia: Where are we up to?

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2014, v. 54, n. 6, p. 503, doi. 10.1111/ajo.12255

By:

Massie, John;
Ioannou, Liane;
Delatycki, Martin

Publication type:

Article

Factors in Protobiomonomer Selection for the Origin of the Standard Genetic Code.

Published in:

Acta Biotheoretica, 2021, v. 69, n. 4, p. 745, doi. 10.1007/s10441-021-09420-4

By:

Saralov, Alexander I.

Publication type:

Article

Young adult daughters of BRCA1/2 positive mothers: What do they know about hereditary cancer and how much do they worry?

Published in:

Psycho-Oncology, 2013, v. 22, n. 9, p. 2024, doi. 10.1002/pon.3257

By:

Patenaude, Andrea F.;
Tung, Nadine;
Ryan, Paula D.;
Ellisen, Leif W.;
Hewitt, Larissa;
Schneider, Katherine A.;
Tercyak, Kenneth P.;
Aldridge, Julie;
Garber, Judy E.

Publication type:

Article

Novel one-stop multidisciplinary follow-up clinic for BRCA1/2 carriers: patient satisfaction and decision making.

Published in:

Psycho-Oncology, 2011, v. 20, n. 12, p. 1301, doi. 10.1002/pon.1846

By:

Firth, Clare;
Jacobs, Christine;
Evison, Margaret;
Pichert, Gabriella;
Izatt, Louise;
Hunter, Myra S.

Publication type:

Article

Targeted Next-Generation Sequencing in Patients with Non-syndromic Congenital Heart Disease.

Published in:

Pediatric Cardiology, 2018, v. 39, n. 4, p. 682, doi. 10.1007/s00246-018-1806-y

By:

Pulignani, Silvia;
Vecoli, Cecilia;
Borghini, Andrea;
Foffa, Ilenia;
Ait-Alì, Lamia;
Andreassi, Maria Grazia

Publication type:

Article

Heterogeneity of $${\varvec{\rm d}}{\varvec{N}}/{\varvec{\rm d}}{\varvec{S}}$$ Ratios at the Classical HLA Class I Genes over Divergence Time and Across the Allelic Phylogeny.

Published in:

Journal of Molecular Evolution, 2016, v. 82, n. 1, p. 38, doi. 10.1007/s00239-015-9713-9

By:

Bitarello, Bárbara;
Francisco, Rodrigo;
Meyer, Diogo

Publication type:

Article

Ephemeral Association Between Gene CG5762 and Hybrid Male Sterility in Drosophila Sibling Species.

Published in:

Journal of Molecular Evolution, 2011, v. 73, n. 3/4, p. 181, doi. 10.1007/s00239-011-9466-z

By:

Ma, Daina;
Michalak, Pawel

Publication type:

Article

Clinical Significance of Hypophosphatasemia in Children.

Published in:

2020

By:

Bayramli, Rana;
Cevlik, Tulay;
Guran, Tulay;
Atay, Zeynep;
Bas, Serpil;
Haklar, Goncagul;
Bereket, Abdullah;
Turan, Serap

Publication type:

journal article

Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.

Published in:

2020

By:

Michigami, Toshimi;
Tachikawa, Kanako;
Yamazaki, Miwa;
Kawai, Masanobu;
Kubota, Takuo;
Ozono, Keiichi

Publication type:

journal article

Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.

Published in:

2017

By:

Wang, Jian-yi;
Liu, Yi;
Song, Li-jie;
Lv, Fang;
Xu, Xiao-jie;
San, A.;
Wang, Jian;
Yang, Huan-ming;
Yang, Zi-ying;
Jiang, Yan;
Wang, Ou;
Xia, Wei-bo;
Xing, Xiao-ping;
Li, Mei

Publication type:

journal article

Novel Compound Heterozygous Mutations in the CYP27B1 Gene Lead to Pseudovitamin D-Deficient Rickets.

Published in:

2016

By:

Koek, W.;
Zillikens, M.;
Eerden, Bram;
Leeuwen, Johannes;
Koek, W Nadia H;
Zillikens, M Carola;
van der Eerden, Bram C J;
van Leeuwen, Johannes P T M

Publication type:

journal article

Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 3, p. 867, doi. 10.1007/s00417-022-05809-0

By:

Marques, João Pedro;
Pinheiro, Rosa;
Carvalho, Ana Luísa;
Raimundo, Miguel;
Soares, Mário;
Melo, Pedro;
Murta, Joaquim;
Saraiva, Jorge;
Silva, Rufino

Publication type:

Article

Influences of ABC transporter and CYP3A4/5 genetic polymorphisms on the pharmacokinetics of lenvatinib in Chinese healthy subjects.

Published in:

European Journal of Clinical Pharmacology, 2020, v. 76, n. 8, p. 1125, doi. 10.1007/s00228-020-02879-z

By:

Li, Jiaming;
Wang, Xiaoqian;
Ning, Chen;
Wang, Zhaoyu;
Wang, Yao;
Zheng, Ming;
Zhang, Siliang;
Lu, Yang;
Zhang, Yongjie;
Li, Ning;
Chen, Xijing;
Zhao, Di

Publication type:

Article

Cytochrome P450 2A6 and 2B6 polymorphisms and smoking cessation success in patients treated with varenicline.

Published in:

European Journal of Clinical Pharmacology, 2019, v. 75, n. 11, p. 1541, doi. 10.1007/s00228-019-02731-z

By:

Tomaz, Paulo Roberto Xavier;
Kajita, Mariana Soares;
Santos, Juliana Rocha;
Scholz, Jaqueline;
Abe, Tânia Ogawa;
Gaya, Patrícia Viviane;
Krieger, José Eduardo;
Pereira, Alexandre Costa;
Santos, Paulo Caleb Júnior Lima

Publication type:

Article

N-Acetyltransferase-2 (NAT2) phenotype is influenced by genotype-environment interaction in Ethiopians.

Published in:

European Journal of Clinical Pharmacology, 2018, v. 74, n. 7, p. 903, doi. 10.1007/s00228-018-2448-y

By:

Aklillu, Eleni;
Carrillo, Juan Antonio;
Makonnen, Eyasu;
Bertilsson, Leif;
Djordjevic, Natasa

Publication type:

Article

Effect of CYP3A422, CYP3A53, and CYP3A combined genotypes on tamoxifen metabolism.

Published in:

European Journal of Clinical Pharmacology, 2017, v. 73, n. 12, p. 1589, doi. 10.1007/s00228-017-2323-2

By:

Sanchez Spitman, A.;
Moes, D.;
Gelderblom, H.;
Dezentje, V.;
Swen, J.J.;
Guchelaar, H.

Publication type:

Article

Meta-analysis of effects of ABCB1 polymorphisms on clopidogrel response among patients with coronary artery disease.

Published in:

European Journal of Clinical Pharmacology, 2017, v. 73, n. 7, p. 843, doi. 10.1007/s00228-017-2235-1

By:

Zhai, Yajing;
He, Hairong;
Ma, Xiancang;
Xie, Jiao;
Meng, Ti;
Dong, Yalin;
Lu, Jun

Publication type:

Article

Association between CACNA1C gene polymorphisms and ritodrine-induced adverse events in preterm labor patients.

Published in:

European Journal of Clinical Pharmacology, 2017, v. 73, n. 7, p. 837, doi. 10.1007/s00228-017-2222-6

By:

Baek, Min;
Hwang, Han;
Park, Jin;
Chung, Jee;
Lee, Kyung;
Lee, Gwan;
Seong, Jin;
Yee, Jeong;
Kim, Young;
Gwak, Hye

Publication type:

Article

CYP1A2 genotype affects carbamazepine pharmacokinetics in children with epilepsy.

Published in:

European Journal of Clinical Pharmacology, 2016, v. 72, n. 4, p. 439, doi. 10.1007/s00228-015-2006-9

By:

Djordjevic, Natasa;
Milovanovic, Dragana;
Radovanovic, Marija;
Radosavljevic, Ivan;
Obradovic, Slobodan;
Jakovljevic, Mihajlo;
Milovanovic, Dragan;
Milovanovic, Jasmina;
Jankovic, Slobodan

Publication type:

Article

Population pharmacokinetics and pharmacogenetics of once daily tacrolimus formulation in stable liver transplant recipients.

Published in:

European Journal of Clinical Pharmacology, 2016, v. 72, n. 2, p. 163, doi. 10.1007/s00228-015-1963-3

By:

Moes, D.;
Bent, S.;
Swen, J.;
Straaten, T.;
Inderson, A.;
Olofsen, E.;
Verspaget, H.;
Guchelaar, H.;
Hartigh, J.;
Hoek, B.

Publication type:

Article

Population pharmacokinetics of rosuvastatin in pediatric patients with heterozygous familial hypercholesterolemia.

Published in:

European Journal of Clinical Pharmacology, 2016, v. 72, n. 1, p. 19, doi. 10.1007/s00228-015-1946-4

By:

Macpherson, Merran;
Hamrén, Bengt;
Braamskamp, Marjet;
Kastelein, John;
Lundström, Torbjörn;
Martin, Paul

Publication type:

Article

Genetic and platelet function testing of antiplatelet therapy for percutaneous coronary intervention: the ARCTIC-GENE study.

Published in:

European Journal of Clinical Pharmacology, 2015, v. 71, n. 11, p. 1315, doi. 10.1007/s00228-015-1917-9

By:

Collet, Jean-Philippe;
Hulot, Jean-Sébastien;
Cuisset, Thomas;
Rangé, Grégoire;
Cayla, Guillaume;
Belle, Eric;
Elhadad, Simon;
Rousseau, Hélène;
Sabouret, Pierre;
O'Connor, Stephen;
Abtan, Jérémie;
Kerneis, Mathieu;
Saint-Etienne, Christophe;
Barthélémy, Olivier;
Beygui, Farzin;
Silvain, Johanne;
Vicaut, Eric;
Montalescot, Gilles

Publication type:

Article

Genotypes at rs2844682 and rs3909184 have no clinical value in identifying HLA-B* 15: 02 carriers.

Published in:

2015

By:

Zhu, Guang-dan;
Brenton, Ashley;
Malhotra, Alka;
Riley, Bae;
Church, Katherine;
Espin, Frank;
Moreno, Tanya;
Strickland, Jennifer;
Tredici, Andria

Publication type:

Letter

Influence of CYP2C19 loss-of-function variants on the antiplatelet effects and cardiovascular events in clopidogrel-treated Chinese patients undergoing percutaneous coronary intervention.

Published in:

European Journal of Clinical Pharmacology, 2013, v. 69, n. 4, p. 771, doi. 10.1007/s00228-012-1392-5

By:

Zou, Jian-Jun;
Xie, Hong-Guang;
Chen, Shao-Liang;
Tan, Jie;
Lin, Ling;
Zhao, Ying-Ying;
Xu, Hai-Mei;
Lin, Song;
Zhang, Juan;
Wang, Guang-Ji

Publication type:

Article

Polymorphisms of UGT1A9 and UGT2B7 influence the pharmacokinetics of mycophenolic acid after a single oral dose in healthy Chinese volunteers.

Published in:

European Journal of Clinical Pharmacology, 2013, v. 69, n. 4, p. 843, doi. 10.1007/s00228-012-1409-0

By:

Guo, Dong;
Pang, Liang-Fang;
Han, Yang;
Yang, Hong;
Wang, Guo;
Tan, Zhi-rong;
Zhang, Wei;
Zhou, Hong-Hao

Publication type:

Article

The influence of VKORC1 3730 G > A polymorphism on warfarin dose: reply.

Published in:

2013

By:

Cini, Michela;
Legnani, Cristina;
Cosmi, Benilde;
Guazzaloca, Giuliana;
Valdrè, Lelia;
Frascaro, Mirella;
Palareti, Gualtiero

Publication type:

Letter

Effect of the P450 oxidoreductase *28 polymorphism on the pharmacokinetics of tacrolimus in Chinese healthy male volunteers.

Published in:

European Journal of Clinical Pharmacology, 2013, v. 69, n. 4, p. 807, doi. 10.1007/s00228-012-1432-1

By:

Zhang, Jing-Jing;
Zhang, Hua;
Ding, Xiao-Liang;
Ma, Sheng;
Miao, Li-Yan

Publication type:

Article

FTO, GCKR, CDKAL1 and CDKN2A/B gene polymorphisms and the risk of gestational diabetes mellitus: a meta-analysis.

Published in:

2018

By:

Guo, Fang;
Long, Wei;
Zhou, Wenbai;
Zhang, Bin;
Liu, Jianbing;
Yu, Bin

Publication type:

journal article

Women at familial risk of breast cancer electing for prophylactic mastectomy: frequencies, procedures, and decision-making characteristics.

Published in:

2017

By:

Schott, Sarah;
Vetter, Lisa;
Keller, Monika;
Bruckner, Thomas;
Golatta, Michael;
Eismann, Sabine;
Dikow, Nicola;
Evers, Christina;
Sohn, Christof;
Heil, Joerg

Publication type:

journal article

Genetic polymorphism of MTHFR C677T with preterm birth and low birth weight susceptibility: a meta-analysis.

Published in:

2017

By:

Wu, Han;
Zhu, Ping;
Geng, Xingyi;
Liu, Zhong;
Cui, Liangliang;
Gao, Zhongchun;
Jiang, Baofa;
Yang, Liping

Publication type:

journal article

LOX-1 gene variants and maternal levels of plasma oxidized LDL and malondialdehyde in patients with gestational diabetes mellitus.

Published in:

2016

By:

Aydemir, Birsen;
Baykara, Onur;
Cinemre, Fatma;
Cinemre, Hakan;
Tuten, Abdullah;
Kiziler, Ali;
Akdemir, Nermin;
Oncul, Mahmut;
Kaya, Baris;
Sozer, Volkan;
Erkorkmaz, Unal;
Uzun, Hafize;
Cinemre, Fatma Behice Serinkan;
Kiziler, Ali Riza

Publication type:

journal article

TMEM106B: a strong FTLD disease modifier.

Published in:

2014

By:

Deming, Yuetiva;
Cruchaga, Carlos

Publication type:

Letter

The neuropathology associated with repeat expansions in the C9ORF72 gene.

Published in:

Acta Neuropathologica, 2014, v. 127, n. 3, p. 347, doi. 10.1007/s00401-013-1232-4

By:

Mackenzie, Ian;
Frick, Petra;
Neumann, Manuela

Publication type:

Article

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.

Published in:

Acta Neuropathologica, 2014, v. 127, n. 3, p. 397, doi. 10.1007/s00401-013-1240-4

By:

van Blitterswijk, Marka;
Mullen, Bianca;
Nicholson, Alexandra;
Bieniek, Kevin;
Heckman, Michael;
Baker, Matthew;
DeJesus-Hernandez, Mariely;
Finch, NiCole;
Brown, Patricia;
Murray, Melissa;
Hsiung, Ging-Yuek;
Stewart, Heather;
Karydas, Anna;
Finger, Elizabeth;
Kertesz, Andrew;
Bigio, Eileen;
Weintraub, Sandra;
Mesulam, Marsel;
Hatanpaa, Kimmo;
White III, Charles

Publication type:

Article

Defining window-boundaries for genomic analyses using smoothing spline techniques.

Published in:

Genetics Selection Evolution, 2015, v. 47, p. 1, doi. 10.1186/s12711-015-0105-9

By:

Beissinger, Timothy M.;
Rosa, Guilherme J. M.;
Kaeppler, Shawn M.;
Gianola, Daniel;
de Leon, Natalia

Publication type:

Article

Allele coding in genomic evaluation.

Published in:

Genetics Selection Evolution, 2011, v. 43, n. 6, p. 1, doi. 10.1186/1297-9686-43-25

By:

Strandén, Ismo;
Christensen, Ole F.

Publication type:

Article

Parent-progeny sequencing indicates higher mutation rates in heterozygotes.

Published in:

Nature, 2015, v. 523, n. 7561, p. 463, doi. 10.1038/nature14649

By:

Yang, Sihai;
Wang, Long;
Huang, Ju;
Zhang, Xiaohui;
Yuan, Yang;
Chen, Jian-Qun;
Hurst, Laurence D.;
Tian, Dacheng

Publication type:

Article

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

Published in:

Nature, 2014, v. 514, n. 7520, p. 92, doi. 10.1038/nature13545

By:

Perry, John R. B.;
Albrecht, Eva;
Gieger, Christian;
Palotie, Aarno;
Peacock, Munro;
Storniolo, Anna M.;
Peterlongo, Paolo;
Peto, Julian;
Postma, Dirkje S.;
Pouta, Anneli;
Pylkäs, Katri;
Winqvist, Robert;
Radice, Paolo;
Rivadeneira, Fernando;
Uitterlinden, André G.;
Rose, Lynda M.;
Ang, Wei Q.;
Pennell, Craig E.;
Salomaa, Veikko;
Schlessinger, David

Publication type:

Article

Artificial thermal gradients alter the distribution of Daphnia mendotae genotypes.

Published in:

Journal of Plankton Research, 2014, v. 36, n. 1, p. 276, doi. 10.1093/plankt/fbt108

By:

Yorks, Rosalina M.;
Roy Chowdhury, Priyanka;
Jeyasingh, Punidan D.

Publication type:

Article

The Relationship Between Odontogenic Cyst and P53 Codon 72 And P53 Codon 175 Variants in Turkish Patients.

Published in:

European Journal of Therapeutics, 2023, v. 29, n. 4, p. 790, doi. 10.58600/eurjther1911

By:

Tümer, Mehmet Kemal;
Keskin, Adem;
Acı, Recai;
Yiğit, Serbülent

Publication type:

Article

Analiza asocjacji pomiędzy polimorfizmem genu hormonu wzrostu (GH/HaeII) a cechami jakości tuszy wieprzowej i mięsa.

Published in:

Journal of Animal Science Biology & Bioeconomy, 2022, v. 38, n. 2, p. 5, doi. 10.24326/jasbb.2022.2.1

By:

BABICZ, MAREK;
WITKOWSKI, PIOTR;
KROPIWIEC-DOMAŃSKA, KINGA;
ZARAJCZYK, DAMIAN;
SKALSKI, KRZYSZTOF;
WACKO, MARIANNA

Publication type:

Article

P53 intronic variant G13964C analyses in cases with colon cancer.

Published in:

Turkish Journal of Cancer, 2009, v. 39, n. 2, p. 51

By:

ONRAT, SERAP TUTGUN;
ELLİDOKUZ, ENDER;
KÜPELİOĞLU, ALİ;
DURHAN, EMİNE

Publication type:

Article

Sudden cardiac death in the young. What’s the rationale behind the irrationality in their surviving relatives?

Published in:

European Journal of Cardiovascular Nursing, 2013, v. 12, n. 5, p. 414, doi. 10.1177/1474515113490607

By:

Christiaans, Imke

Publication type:

Article

P101 Effect of different genetic variants (2C92, 2C93 of cytochrome P-450 CYP2C9 and -1639G>A of the VKORC1 gene) on acenocoumarol requirement in Moroccan patients

Published in:

2011

By:

Smires, F.-Z.;
Assaidi, A.;
Loriot, M.A.;
Moreau, C.;
Habbal, R.;
Nadifi, S.

Publication type:

Abstract

MEFV mutations in Iranian Azari Turkish patients with Henoch-Schönlein purpura.

Published in:

Turkish Journal of Medical Sciences, 2016, v. 46, n. 4, p. 967, doi. 10.3906/sag-1505-131

By:

BONYADI, Mortaza;
YOUNESI, Mahdieh;
RAFEEY, Mandana;
SADEGHI SHABESTARI, Mahnaz;
MORTAZAVI, Fakhrossadat

Publication type:

Article

Genetic carrier screening in pregnancy Informing patients.

Published in:

Medicine Today, 2023, v. 24, n. 3, p. 39

By:

PARSONS, SALLY;
HAYSOM, GEORGIE

Publication type:

Article

Neuropilin-2 mediates VEGF-C--induced lymphatic sprouting together with VEGFR3.

Published in:

Journal of Cell Biology, 2010, v. 188, n. 1, p. 115, doi. 10.1083/jcb.200903137

By:

Xu, Yunling;
Yuan, Li;
Mak, Judy;
Pardanaud, Luc;
Caunt, Maresa;
Kasman, Ian;
Larrivée, Bruno;
del Toro, Raquel;
Suchting, Steven;
Medvinsky, Alexander;
Silva, Jillian;
Yang, Jian;
Thomas, Jean-Léon;
Koch, Alexander W.;
Alitalo, Kari;
Eichmann, Anne;
Bagri, Anil

Publication type:

Article

Development of adulthood hostile attitudes: Childhood environment and serotonin receptor gene interactions.

Published in:

Personal Relationships, 2011, v. 18, n. 2, p. 184, doi. 10.1111/j.1475-6811.2010.01321.x

By:

MERJONEN, PÄIVI;
PULKKI‐RÅBACK, LAURA;
LIPSANEN, JARI;
LEHTIMÄKI, TERHO;
RONTU, RIIKKA;
VIIKARI, JORMA;
HINTSANEN, MIRKA;
KELTIKANGAS‐JÄRVINEN, LIISA

Publication type:

Article